Canonical Allele Identifier: CA405415059
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36317456G>C (hg19) chr19:g.35826554G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826554G>C , CM000681.2:g.35826554G>C GRCh38
NC_000019.9:g.36317456G>C , CM000681.1:g.36317456G>C GRCh37
NC_000019.8:g.41009296G>C NCBI36
NG_013356.2:g.47734C>G , LRG_693:g.47734C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3686C>G MANE Select ENSP00000368190.4:p.Pro1229Arg
ENST00000353632.6:c.3566C>G ENSP00000343634.5:p.Pro1189Arg
ENST00000378910.9:c.3686C>G ENSP00000368190.4:p.Pro1229Arg
NM_004646.3:c.3686C>G , LRG_693t1:c.3686C>G NP_004637.1:p.Pro1229Arg
NM_004646.4:c.3686C>G MANE Select NP_004637.1:p.Pro1229Arg
Search 100 bp 5'
Search 100 bp 3'